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  • richardmitnick 8:54 am on September 11, 2017 Permalink | Reply
    Tags: , Autism, , ,   

    From Rutgers: Women in STEM – “Rutgers Neuroscientist Finds a Way to Track and Measure Female Autism, Asperger’s” 

    Rutgers University
    Rutgers University

    September 7, 2017
    Ken Branson

    1
    Objective electronic data, such as data generated by fMRI brain scans, are better tools for measuring and detecting autism in girls than subjective observation, Rutgers neuroscientist Elizabeth Torres says.

    A Rutgers University study found that tracking and measuring the involuntary head movements revealed in functional magnetic resonance imaging (fMRI) scans offers a new, more accurate way to detect autism in girls.

    Rutgers University-New Brunswick neuroscientist Elizabeth Torres said the traditional criteria used to diagnose autism are largely based on the observed behavior of children, and since boys in western society are expected to be active, deviations from that norm are easy to spot. Girls are socialized to be quieter, so autism is harder to observe. Perhaps partly due to these cultural biases, boys are diagnosed with autism five times as often as girls. “The criteria are male-driven, so we’re measuring females with a male ruler,” she said.

    In a paper published in Frontiers in Integrative Neuroscience, Torres and her co-authors report on what they found by matching data about involuntary head movements from fMRI scans to diagnoses of autism spectrum disorder. “When you go in an fMRI machine, they tell you to hold still,” she said. “But you can’t hold totally still; nobody can. The machine will pick up involuntary movements that the patient is unaware of and that an observer wouldn’t see with the naked eye.”

    Torres, associate professor of psychology in the School of Arts and Sciences, used data from the Autism Brain Imaging Data Exchange (ABIDE) databases, which contain raw information from brain scans collected from laboratories around the world – a guard against the cultural bias inherent in observation. The researchers examined the scans of 2,199 people, all of whom had been diagnosed with autism or Asperger’s syndrome, a relatively mild disorder on the autism spectrum. Three hundred nine of the scans were of females.

    Torres says the tools traditionally used to diagnose autism offer no definition of “normal” behavior, nor do they offer standardized scales that can be mapped to the kind of neurophysiological data that comes from fMRI scans. However, involuntary motions, like those measured by fMRI scans, may help clinicians more accurately determine whether and where a person belongs on the autism spectrum.

    This is the latest in a series of articles in which Torres has made use of electronic data, either obtained from fMRI scans or from wearable sensors, to study such conditions as autism and stroke.

    Torres’ co-authors are Sejal Mistry, a an undergraduate student when the research was done and now a Fulbright Scholar in India; and Caroline Whyatt and Carla Caballero, both post-doctoral researchers in Torres’ laboratory at Rutgers University-New Brunswick.

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  • richardmitnick 8:28 am on August 24, 2017 Permalink | Reply
    Tags: , Autism, Autism incidence increasing, ,   

    From Stanford: “Does autism reflect an excitation-inhibition imbalance in the brain?” 

    Stanford University Name
    Stanford University

    August 8, 2017
    Bruce Goldman

    1
    To date, there are no medications that treat the fundamental underpinnings of autism. | iStock / eli_asenova

    In a series of experiments conducted on a mouse model of the disorder, the scientists showed that reducing the ratio of excitatory to inhibitory signaling countered hyperactivity and deficits in social ability, two classic symptoms of autism in humans.

    The study was published Aug. 2 in Science Translational Medicine. Karl Deisseroth, professor of bioengineering and of psychiatry and behavioral sciences, is the study’s senior author. The lead author is former graduate student Aslihan Selimbeyoglu, PhD.

    In 2011, Deisseroth’s group published a study in Nature showing that autismlike behavioral deficits could be induced in ordinary mice by elevating the ratio of excitatory to inhibitory neuronal firing patterns in the mice’s medial prefrontal cortex. The new study shows that decreasing that ratio restores normal behavior patterns in a strain of lab mice bioengineered to mimic human autism. These mice carry a mutation equivalent to a corresponding mutation in humans that is associated with autism spectrum disorder.

    Autism incidence increasing

    For reasons that are not understood, the incidence of autism spectrum disorder has increased steadily in recent years, said Deisseroth, a practicing psychiatrist. Around 1 in 80 American children may be diagnosed with the disorder, which is characterized by repetitive behaviors and difficulty with social interaction. To date, there are no medications that treat the fundamental underpinnings of the disorder.

    “In all of psychiatry, there’s no lab test that can diagnose this condition,” said Deisseroth. “It’s been associated with numerous genetic variants, many of which appear to exert only small individual influences.”

    Deisseroth, who holds the D.H. Chen Professorship, notes that UCSF psychiatrist John Rubenstein and his colleagues, among others, have theorized that an excitation-inhibition imbalance might account for these phenomena. While myriad genetic variations contribute to autism, many of them may do so by impairing, in diverse ways, a single process or a small number of processes necessary for overall healthy brain function, such as a balance between excitatory and inhibitory signaling in key brain regions. One of those regions is the medial prefrontal cortex, which plays a major role in executive functions, such as planning, prediction, attention and integrating information from other individuals’ behaviors and speech for clues as to what they might be thinking.

    Testing the hypothesis

    “Social interaction may be the hardest thing a mammal can do,” Deisseroth said. “It’s an immensely complex phenomenon that requires rapid, highly integrated communication among disparate, distant parts of the brain. Specific brain states well-suited for rich information handling may be needed for effective social communication and behavior.”

    To test the excitation-inhibition balance hypothesis, the Stanford scientists launched a set of experiments employing the mutant mice, which display hyperactive behavior and impaired social interaction. Interestingly, these mice also share a less visible characteristic with humans carrying the equivalent mutation: a shortage, compared with normal mice and humans, of parvalbumin neurons, a particular category of inhibitory nerve cell found throughout the brain. In a 2009 Nature paper, Deisseroth and his team reported that parvalbumin neuron activity can improve the information-handling capacity of forebrain neurons.

    The researchers used optogenetics, an advanced laboratory technology that Deisseroth pioneered, to insert genes for two types of light-sensitive proteins, or opsins, into two distinct sets of neurons in the medial prefrontal cortex of the mice. The researchers inserted one type of opsin into parvalbumin inhibitory neurons in that region of the mice’s brains. It made the neuron more excitable if it received a pulse of blue light, delivered via an implanted optical fiber.

    The other opsin, also activated with a pulse of blue light, had the opposite effect: When activated, it rendered the neuron on which it sat more resistant to firing. The scientists put this inhibitory opsin in a set of excitatory medial prefrontal cortex neurons called pyramidal neurons.

    Reducing the excitation-inhibition ratio by either diminishing the excitability of the pyramidal neurons or by increasing the excitability of the parvalbumin neurons led to the same result in the mice: more time spent engaging in social encounters with other mice and less hyperactivity during those encounters or when the mice were by themselves.

    “Excitation-inhibition balance can take many forms and may be important at different stages of life,” Deisseroth said. “Together, these findings suggest that this form of regulating the ratio of excitatory- to inhibitory-cell firing in the medial prefrontal cortex may be significant in normal social behavior and in autism.”

    Deisseroth is a member of the Stanford Neurosciences Institute and of Stanford Bio-X, an interdisciplinary consortium of physical and medical scientists and engineers.

    Other Stanford study co-authors are postdoctoral scholars Christina Kim, PhD, and Masatoshi Inoue, PhD; former postdoctoral scholars Soo Yeun Lee, PhD, and Thomas Davidson, PhD; laboratory technician Alice Hong; graduate student Isaac Kauvar; laboratory manager Charu Ramakrishnan; former graduate student Lief Fenno, PhD; and psychiatry instructor Matthew Wright, MD, PhD.

    The study was funded by the National Institute of Mental Health (grants R01MH075957, R01MH08637306), the National Institute on Drug Abuse (grants F31DA041795 and R01DA03537701), the U.S. Defense Advanced Research Projects Agency, the Simons Foundation, the Wiegers Foundation, the Gatsby Foundation and the National Science Foundation.

    Stanford’s departments of Bioengineering and of Psychiatry and Behavioral Sciences also supported the work. The Department of Bioengineering is jointly operated by the School of Medicine and the School of Engineering.

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  • richardmitnick 9:06 am on July 26, 2017 Permalink | Reply
    Tags: , Autism, , ,   

    From UCLA Newsroom: “Brain activity test detects autism severity, UCLA study finds” 


    UCLA Newsrooom

    July 25, 2017
    Sarah C.P. Williams

    UCLA RESEARCH ALERT

    FINDINGS

    UCLA researchers have discovered that children with autism have a tell-tale difference on brain tests compared with other children. Specifically, the researchers found that the lower a child’s peak alpha frequency — a number reflecting the frequency of certain brain waves — the lower their non-verbal IQ was. This is the first study to highlight peak alpha frequency as a promising biomarker to not only differentiate children with autism from typically developing children, but also to detect the variability in cognitive function among children with autism.

    BACKGROUND

    Autism spectrum disorder affects an estimated one in 68 children in the United States, causing a wide range of symptoms. While some individuals with the disorder have average or above-average reasoning, memory, attention and language skills, others have intellectual disabilities. Researchers have worked to understand the root of these cognitive differences in the brain and why autism spectrum disorder symptoms are so diverse.

    An electroencephalogram, or EEG, is a test that detects electrical activity in a person’s brain using small electrodes that are placed on the scalp. It measures different aspects of brain activity including peak alpha frequency, which can be detected using a single electrode in as little as 40 seconds and has previously been linked to cognition in healthy individuals.

    METHOD

    The researchers performed EEGs on 97 children ages 2 to 11; 59 had diagnoses of autism spectrum disorder and 38 did not have the disorder. The EEGs were taken while the children were awake and relaxed in dark, quiet rooms. Correlations among age, verbal IQ, non-verbal IQ and peak alpha frequency were then studied.

    IMPACT

    The discovery that peak alpha frequency relates directly to non-verbal IQ in children with the disorder suggests a link between the brain’s functioning and the severity of the condition. Moreover, it means that researchers may be able to use the test as a biomarker in the future, to help study whether an autism treatment is effective in restoring peak alpha frequency to normal levels, for instance.

    More work is needed to understand whether peak alpha frequency can be used to predict the development of autism spectrum disorder in young children before symptoms emerge.

    AUTHORS

    The authors of the study are Shafali Spurling Jeste, UCLA associate professor in psychiatry, neurology and pediatrics and a lead investigator of the UCLA Center for Autism Research and Treatment; Abigail Dickinson and Charlotte DiStefano, postdoctoral fellows at the UCLA Center for Autism Research and Treatment; and Damla Senturk, associate professor of biostatistics at UCLA.

    JOURNAL

    The study was published online in the European Journal of Neuroscience.

    FUNDING

    The study was funded by Autism Speaks (Meixner Postdoctoral Fellowship in Translational Research), the National Institutes of Mental Health (K23MH094517), the National Institute of General Medical Sciences (R01 GM111378-01A1) and the National Institute of Health (ACE 2P50HD055784-06).

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  • richardmitnick 11:55 am on June 10, 2017 Permalink | Reply
    Tags: , Autism, , Developers need to consider how a person with autism could react to their technology, , Technology in the form of augmented communication aids has helped to give them a voice   

    From CSIRO: “Research in autism-friendly technology needs to improve to make a real difference for people” 

    CSIRO bloc

    Commonwealth Scientific and Industrial Research Organisation

    9th June 2017
    David Ireland
    Dana Bradford
    David Silvera-Tawil

    1
    Developers need to consider how a person with autism could react to their technology. Shutterstock/Dubova

    People on the autism spectrum can face challenges in dealing with a world they perceive differently to other people, no matter the severity of their condition.

    Some people with autism gravitate towards technology for learning, play and communication. For many, technology in the form of augmented communication aids has helped to give them a voice.

    We focus on the role technology plays in the lives of autistic people and their families. In particular, what are the benefits and problems, and where can we head in the future to get things right?

    As part of that ongoing work, we collected user feedback by pulling data from millions of autism-related comments in public reviews of apps. We found many of the comments showed there were some clear benefits to people with autism, but there were also problems that could have been easily avoided.

    A hole in the evidence base

    Carly Fleischmann was once considered a non-verbal, low-functioning autistic person. Now, with the aid of a digitally synthesised voice, she interviews celebrities such as Channing Tatum and has her own online talk show.


    Introducing Carly Fleischmann.

    But there is little evidence of the long-term benefits and complications of using computers and mobile devices to assist, educate and entertain autistic learners.

    This is despite positive responses to computer-based therapy first being published more than four decades ago. In part, a dearth of evidence is due to research being expensive and impeded by ethical issues when working with people who are considered vulnerable.

    Moreover, many families are becoming increasingly disillusioned with autism research. Many feel that research outcomes have become distanced from practical strategies that help families manage the challenges that come with autism.

    This is important, because 1 in 100 children is being diagnosed on the autistic spectrum. Of the participants on the National Disability Insurance Scheme 29% are autistic, the second-largest disability group in the scheme.

    From an economic perspective, there is an increasing annual cost estimated to be A$5.8 billion that is borne by families, communities and government.

    If technology can help people on the autism spectrum then we need to get it right to help with their learning and communication, and to help their families and carers.

    The current role of mobile technology

    Before we look to the future it is prudent to understand the present role of app-based technology.

    We scoured the Android Play and Apple App stores using a webcrawler that scanned as many apps and their associated reviews as could be found.

    The webcrawler applied an algorithm that kept reviews related to autism and discarded those that weren’t relevant, for example when autism was used as a derogatory term.

    In the end, 56 million reviews were analysed from more than 2-million apps. About one in 7,500 reviews from Apple and one in 50,000 from Android were found to have useful information that told a story. Here’s a typical example, about the My First Tangrams puzzle app:

    “This is a great app it has helped my son who has autism learn motor skills, matching shape recognition, motor planning, independence and makes him think by turning off the magnet.”

    From the extracted reviews, more than 85% referred to an app that was neither designed nor advertised for autistic people. We only found 57 apps specifically designed for autistic people that claimed to be evidence-based, but this was not verified.
    The most reported benefits

    The first question we looked at was: what were the main reported benefits?

    Common problems in autism include language, education, behaviour, imagination, sleep, motor skills, attention, sensory, social, diary, hygiene, emotions, food and eye contact. So we counted how many times these themes appeared in the reviews.

    2

    We found that language and education had the highest frequency of matches. Apple reviews were more prolific and reported benefits in all areas examined, whereas Android returned a smaller number of reviews across fewer areas.

    Although anecdotal, this does give some credence that autistic people and their families are using technology for other than entertainment.

    Tailored for younger users

    It was common for the reviewers to report a particular age. Here’s an example from the Relax+ Jr. with Andrew Johnson meditation app:

    “My 7 year old son is autistic and has major sleep problems however since using the original app his sleep has improved dramatically.”

    Age consistency was apparent between reviews from the Apple and Android stores, with the largest age groups targeted being between three and five year-olds. The reported ages ranged from one to 18, as shown in the figure below.

    3

    The average age of autism diagnosis is typically about three years old and therapy usually starts as soon as possible. It is not surprising that there is a demand for technology suitable for an age group that coincides with the commencement of intensive interventions.

    Are app developers autism friendly?

    We found a recurring theme of developers changing and updating features of the app that often caused distress to young people with autism, such as this example on the Tiny Firefighters: Police & Firefighters for Kids app:

    “This was my son’s favorite game. My son is autistic. A seemingly small change like this is life-altering drama for him. Please change the icon, at least, so he thinks it’s a different game.”

    Here’s another example on the Disney Junior Appisodes of when things go wrong from an app behaving unexpectedly:

    “Bought this app for my 5 yr old with autism. He loves Disney. App always crashes so now all he does is scream in frustration when it repeatedly doesn’t work.”

    As we said earlier, the majority of the apps we found being used by people were not specifically developed for people with autism.

    But had these apps been developed with help from people involved with autism research, then the developers could be better advised on how to avoid causing any distress.

    Perhaps we need a set of guidelines for all software developers to help them develop autism friendly apps?

    Autism diagnoses are increasing and showing no signs of curtailing, and the causes are still debated.

    Research shows people on the autism spectrum tend to spend significantly more screen time than the typical person. As such, they have the potential to rapidly develop skills and learning experiences from technology.

    The use of any mobile technology must provide a positive role for people with autism. But there are still some serious unanswered questions as to how best technology should be designed and developed to mitigate overuse, or harm from poor design or deployment.

    Are the skills and experiences that are obtained from using a particular app being transferred to the real world? Are people with autism becoming dependent on the virtual world while elements of interpersonal interaction are sacrificed? What are the negative effects of overuse and poor design of apps?

    We believe technologies that offer safe, interactive and therapeutic environments will only come about from a multidisciplinary team of clinicians, software developers, people on the autism spectrum and their families.

    Nevertheless, the future does look brighter for a person diagnosed with autism and their families as one reviewer remarked on the Tinycards memory education app:

    “The last two days I’ve finally been having good interactions with my four year old daughter.”

    See the full article here .

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  • richardmitnick 9:47 am on April 26, 2017 Permalink | Reply
    Tags: , Autism, ,   

    From U Washington: “With autism diagnoses on the rise, UW establishes clinic for babies” 

    U Washington

    University of Washington

    April 25, 2017
    Kim Eckart

    1
    Research scientist Tanya St. John works with a baby at the University of Washington Autism Center.

    To new parents, a baby’s every gurgle and glance are fascinating, from a smile at mom or dad to a reach for a colorful toy.

    But when a baby doesn’t look at parents and caregivers, imitate gestures and sounds, or engage in play, parents have questions. And a growing number are bringing their babies to the University of Washington Autism Center for answers.

    As autism diagnoses have increased over the years — an estimated one in 68 people has autism spectrum disorder — parents have looked for signs earlier in their children’s lives, especially if they have an older child with autism. While the average age for autism diagnosis in the United States is around 4 years, a growing body of research and practice suggests accurate assessment of children as young as 12 months old, though rare, is not only possible, but also useful.

    “Many people have an unfounded belief that you have to wait until 36 months of age to diagnose autism. That is not the case,” said Annette Estes, who directs the UW Autism Center and is a research affiliate at the Center on Human Development and Disability. “There is a great deal of value in diagnosing as soon as symptoms emerge — it gives parents a great deal of relief and allows appropriate intervention to begin.”

    With only a few infant autism clinics scattered around the country, families have brought their infants to the UW Autism Center from elsewhere in the United States, and in a few cases, the world, Estes said. The natural next step was to dedicate services to them.

    The center’s Infant Clinic, officially established this spring, provides four clinical psychologists to evaluate infants and toddlers up to 24 months of age, along with teams of behavior analysts to create a treatment plan with clinic- and home-based activities — just as would happen with older children. The difference, Estes explained, is the specific expertise with the infant population.

    The Autism Center, part of the UW Department of Speech & Hearing Sciences, has conducted a number of studies into the signs of autism and the effectiveness of intervention strategies. Earlier this year, Nature published findings from the center’s involvement in a North American effort that examined brain biomarkers in infants, including those with at least one autistic sibling. The study showed that magnetic resonance imaging (MRI) helped correctly identify 80 percent of babies who would go on to be diagnosed with autism at 2 years of age Researchers are wrapping up another study, focused on toddlers 12 to 24 months old, that looks at structured intervention activities versus a more play-based approach.

    That work bolsters the center’s diagnostic and treatment capacity with infants, Estes explained.

    For older infants and toddlers, psychologists focus on social and communication deficits, said Tanya St. John, a research scientist and clinical psychologist at the center. Typically-developing infants and toddlers spend time engaging and interacting with their caregivers, which helps them learn language and fosters their social development.

    “Children showing the early signs of autism don’t do those things as much as expected, or they don’t do them at all,” St. John said. “We look at a repertoire of other behaviors as well: Do they do the same thing over and over? Do they pick up a toy and inspect it closely? Do they have a hard time when you change activities?”

    It is less common to diagnose a very young child, St. John said, but when that happens, it’s typically because the symptoms are clear.

    “Most people are hesitant to give a diagnosis to a child who isn’t showing clear signs of ASD. We tend to give early diagnoses to children who meet all of the criteria for a diagnosis, and if they’re not, we take an assessment-and-monitoring approach, where we give parents specific recommendations based on the child’s current challenges, and then see the child back 3 to 6 months later,” she explained.

    Treatment would follow the same general trajectory, depending on the infant’s symptoms and development, as toddlers and older children. Specialists might work on communication, for instance, through strategies to encourage eye contact. As children age, they work with specialists on cognitive, social and motor skills, both individually and in peer groups. Much of the Autism Center’s approach is designed to give parents tools that they can use at home, Estes said.

    Spotting the signs of autism early is critical, she added, so that a family can connect with the right services, whether in the clinic or out in the community.

    A little over three years ago, the Autism Center accurately diagnosed its youngest client: a 10-month-old boy. Thanks to subsequent intervention activities, Estes said, he has developed communication skills, engages socially and is thriving in preschool.

    See the full article here .

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  • richardmitnick 10:56 am on February 16, 2017 Permalink | Reply
    Tags: , Autism, , , Using (MRI) to study the brains of infants who have older siblings with autism   

    From U Washington: “Predicting autism: Researchers find autism biomarkers in infancy” 

    U Washington

    University of Washington

    February 15, 2017
    No writer credit

    By using magnetic resonance imaging (MRI) to study the brains of infants who have older siblings with autism, scientists were able to correctly identify 80 percent of the babies who would be subsequently diagnosed with autism at 2 years of age.

    Researchers from the University of Washington were part of a North American effort led by the University of North Carolina to use MRI to measure the brains of “low-risk” infants, with no family history of autism, and “high-risk” infants who had at least one autistic older sibling. A computer algorithm was then used to predict autism before clinically diagnosable behaviors set in. The study was published Feb. 15 in the journal Nature.

    This is the first study to show that it is possible to use brain biomarkers to identify which infants in a high-risk pool — that is, those having an older sibling with autism — will be diagnosed with autism spectrum disorder, or ASD, at 24 months of age.

    2
    Annette Estes, left, plays with a child at the UW Autism Center.Kathryn Sauber

    “Typically, the earliest we can reliably diagnose autism in a child is age 2, when there are consistent behavioral symptoms, and due to health access disparities the average age of diagnosis in the U.S. is actually age 4,” said co-author and UW professor of speech and hearing sciences Annette Estes, who is also director of the UW Autism Center and a research affiliate at the UW Center on Human Development and Disability, or CHDD. “But in our study, brain imaging biomarkers at 6 and 12 months were able to identify babies who would be later diagnosed with ASD.”

    The predictive power of the team’s findings may inform the development of a diagnostic tool for ASD that could be used in the first year of life, before behavioral symptoms have emerged.

    “We don’t have such a tool yet,” said Estes. “But if we did, parents of high-risk infants wouldn’t need to wait for a diagnosis of ASD at 2, 3 or even 4 years and researchers could start developing interventions to prevent these children from falling behind in social and communication skills.”

    People with ASD — which includes 3 million people in the United States — have characteristic social communication deficits and demonstrate a range of ritualistic, repetitive and stereotyped behaviors. In the United States, it is estimated that up to one out of 68 babies develops autism. But for infants with an autistic older sibling, the risk may be as high as one out of every five births.

    This research project included hundreds of children from across the country and was led by researchers at four clinical sites across the United States: the University of North Carolina-Chapel Hill, UW, Washington University in St. Louis and The Children’s Hospital of Philadelphia. Other key collaborators are at the Montreal Neurological Institute, the University of Alberta and New York University.

    3
    Stephen Dager.Marie-Anne Domsalla

    “We have wonderful, dedicated families involved in this study,” said Stephen Dager, a UW professor of radiology and associate director of the CHDD, who led the study at the UW. “They have been willing to travel long distances to our research site and then stay up until late at night so we can collect brain imaging data on their sleeping children. The families also return for follow-up visits so we can measure how their child’s brain grows over time. We could not have made these discoveries without their wholehearted participation.”

    Researchers obtained MRI scans of children while they were sleeping at 6, 12 and 24 months of age. The study also assessed behavior and intellectual ability at each visit, using criteria developed by Estes and her team. They found that the babies who developed autism experienced a hyper-expansion of brain surface area from 6 to 12 months, as compared to babies who had an older sibling with autism but did not themselves show evidence of autism at 24 months of age. Increased surface area growth rate in the first year of life was linked to increased growth rate of brain volume in the second year of life. Brain overgrowth was tied to the emergence of autistic social deficits in the second year.

    4
    MRI technician Mindy Dixon and Stephen Dager review a magnetic resonance spectroscopic image of a child’s brain chemistry.University of Washington

    The researchers input these data — MRI calculations of brain volume, surface area, and cortical thickness at 6 and 12 months of age, as well as sex of the infants — into a computer program, asking it to classify babies most likely to meet ASD criteria at 24 months of age. The program developed the best algorithm to accomplish this, and the researchers applied the algorithm to a separate set of study participants.

    Researchers found that, among infants with an older ASD sibling, the brain differences at 6 and 12 months of age successfully identified 80 percent of those infants who would be clinically diagnosed with autism at 24 months of age.

    If these findings could form the basis for a “pre-symptomatic” diagnosis of ASD, health care professionals could intervene even earlier.

    “By the time ASD is diagnosed at 2 to 4 years, often children have already fallen behind their peers in terms of social skills, communication and language,” said Estes, who directs behavioral evaluations for the network. “Once you’ve missed those developmental milestones, catching up is a struggle for many and nearly impossible for some.”

    Research could then begin to examine interventions on children during a period before the syndrome is present and when the brain is most malleable. Such interventions may have a greater chance of improving outcomes than treatments started after diagnosis.

    “Our hope is that early intervention — before age 2 — can change the clinical course of those children whose brain development has gone awry and help them acquire skills that they would otherwise struggle to achieve,” said Dager.

    The research team has gathered additional behavioral and brain imaging data on these infants and children — such as changes in blood flow in the brain and the movement of water along white matter networks — to understand how brain connectivity and neural activity may differ between high-risk children who do and don’t develop autism. In a separate study published Jan. 6 in Cerebral Cortex, the researchers identified specific brain regions that may be important for acquiring an early social behavior called joint attention, which is orienting attention toward an object after another person points to it.

    “These longitudinal imaging studies, which follow the same infants as they grow older, are really starting to hone in on critical brain developmental processes that can distinguish children who go on to develop ASD and those who do not,” said Dager. “We hope these ongoing efforts will lead to additional biomarkers, which could provide the basis for early, pre-symptomatic diagnosis and serve also to guide individualized interventions to help these kids from falling behind their peers.”

    The research was funded by the National Institutes of Health, Autism Speaks and the Simons Foundation.

    See the full article here .

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    The University of Washington is one of the world’s preeminent public universities. Our impact on individuals, on our region, and on the world is profound — whether we are launching young people into a boundless future or confronting the grand challenges of our time through undaunted research and scholarship. Ranked number 10 in the world in Shanghai Jiao Tong University rankings and educating more than 54,000 students annually, our students and faculty work together to turn ideas into impact and in the process transform lives and our world. For more about our impact on the world, every day.

    So what defines us — the students, faculty and community members at the University of Washington? Above all, it’s our belief in possibility and our unshakable optimism. It’s a connection to others, both near and far. It’s a hunger that pushes us to tackle challenges and pursue progress. It’s the conviction that together we can create a world of good. Join us on the journey.

     
  • richardmitnick 9:41 am on January 16, 2017 Permalink | Reply
    Tags: , Autism, Autism Risk May Arise From Sex-Specific Traits, , , SNP - single nucleotide polymorphism   

    From SA: “Autism Risk May Arise From Sex-Specific Traits” 

    Scientific American

    Scientific American

    January 16, 2017
    Ann Griswold

    Genetic sequences that code for physical features that differ between boys and girls also seem to contribute to risk for the disorder.

    1
    Alena Baranova, EyeEm, Getty Images

    2
    Basic biology: Different genetic variants contribute to autism risk in boys versus girls. Alfred Pasieka / Science Photo Library

    Genetic variants that shape physical features that vary with sex, such as waist-to-hip ratio, may also affect autism risk, according to a new study.

    Many of the genes involved in these features are not linked to autism or even the brain. Instead, they help establish basic physical differences between the sexes, says lead investigator Lauren Weiss, associate professor of psychiatry at the University of California, San Francisco.

    “Whatever general biological sex differences cause a [variant] to have a different effect on things like height in males and females, those same mechanisms seem to be contributing to autism risk,” she says. The work appeared in November in PLOS Genetics.

    The results bolster the notion that mutations in some genes contribute to autism’s skewed sex ratio: The condition is diagnosed in about five boys for every girl. That may be because girls require a bigger genetic hit to show features of the condition, because sex hormones in the womb boost the risk in boys or because autism is easier to detect in boys than in girls.

    The new study is the first to look at sex differences in common genetic variants called single nucleotide polymorphisms (SNPs). It shows that the sexes differ in which autism-linked SNPs they have, but not in the overall number of such SNPs.

    Separate sets:

    Weiss and her team analyzed published genetic data from four databases and unpublished data from five others. Altogether, they reviewed information from 8,646 individuals with autism, including 1,468 girls and women. They also analyzed data from 15,028 controls, some of whom are related to people in the autism group.

    The researchers first identified SNPs that differ between males with autism and their unaffected family members and unrelated controls. They then repeated the procedure for girls and women with autism.

    These two analyses revealed distinct sets of SNPs associated with autism: a set of five SNPs in boys and men and a separate set of three SNPs in girls and women. None of the variants have previously been associated with autism.

    The researchers then compared males who have autism with females who have the condition. They found similar levels of genetic variation in the two groups, with equal numbers of autism risk genes affected. This result suggests that common variants do not contribute to a stronger genetic hit in girls with autism.

    Body of data:

    When the researchers compared people who have autism with controls, they did not find any differences in SNPs in genes that respond to sex hormones.

    The team then looked at 11 SNPs known to influence height, weight, body mass index, hip and waist measurements in women, and 15 variants that influence these physical traits in men. They found more of these sex-specific SNPs in people with autism than in controls. None of these SNPs have previously been associated with autism.

    The findings suggest that different SNPs contribute to autism risk in boys and girls.

    The fact that some of these SNPs also shape physical traits in a sex-specific way is particularly interesting, says Meng-Chuan Lai, assistant professor in psychiatry at the University of Toronto, who was not involved in the study. Scientists should examine whether sex differences in brain structure in people with autism track with the sex-specific SNPs, he says.

    Weiss says she hopes the findings will spur researchers to pay more attention to the influences of sex when sifting through genomic data. Outfitting genetic repositories with the option to sort data by sex would be the next step for that approach.

    See the full article here .

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  • richardmitnick 1:08 pm on December 6, 2016 Permalink | Reply
    Tags: , Autism, ,   

    From UCLA: “Brains of people with autism spectrum disorder share similar molecular abnormalities” 

    UCLA bloc

    UCLA

    December 05, 2016
    Jim Schnabel

    1
    Brains typically have a standard pattern for which genes are active and which are inactive (left). In the brains of people with autism (right), genes don’t follow that pattern, but they do have their own consistent patterns from one brain to the next. Neelroop Parikshak/UCLA Health

    Autism spectrum disorder is caused by a variety of factors, both genetic and environmental. But a new study led by UCLA scientists provides further evidence that the brains of people with the disorder tend to have the same “signature” of abnormalities at the molecular level.

    The scientists analyzed 251 brain tissue samples from nearly 100 deceased people — 48 who had autism and 49 who didn’t. Most of the samples from people with autism showed a distinctive pattern of unusual gene activity.

    The findings, published Dec. 5 in Nature, confirm and extend the results of earlier, smaller studies, and provide a clearer picture of what goes awry, at the molecular level, in the brains of people with autism.

    “This pattern of unusual gene activity suggests some possible targets for future autism drugs,” said Dr. Daniel Geschwind, the paper’s senior author and UCLA’s Gordon and Virginia MacDonald Distinguished Professor of Human Genetics. “In principle, we can use the abnormal patterns we’ve found to screen for drugs that reverse them — and thereby hopefully treat this disorder.”

    According to the Centers for Disease Control and Prevention, about 1.5 percent of children in the U.S. have autism; the disorder is characterized by impaired social interactions and other cognitive and behavioral problems. In rare cases, the disorder has been tied to specific DNA mutations, maternal infections during pregnancy or exposures to certain chemicals in the womb. But in most cases, the causes are unknown.

    In a much-cited study in Nature in 2011, Geschwind and colleagues found that key regions of the brain in people with different kinds of autism had the same broad pattern of abnormal gene activity. More specifically, researchers noticed that the brains of people with autism didn’t have the “normal” pattern for which genes are active or inactive that they found in the brains of people without the disorder. What’s more, the genes in brains with autism weren’t randomly active or inactive in these key regions, but rather had their own consistent patterns from one brain to the next — even when the causes of the autism appear to be very different.

    The discovery suggested that different genetic and environmental triggers of autism disorders mostly lead to disease via the same biological pathways in brain cells.

    In the new study, Geschwind and his team analyzed a larger number of brain tissue samples and found the same broad pattern of abnormal gene activity in areas of the brain that are affected by autism.

    “Traditionally, few genetic studies of psychiatric diseases have been replicated, so being able to confirm those initial findings in a new set of patients is very important,” said Geschwind, who also is a professor of neurology and psychiatry at the David Geffen School of Medicine at UCLA. “It strongly suggests that the pattern we found applies to most people with autism disorders.”

    The team also looked at other aspects of cell biology, including brain cells’ production of molecules called long non-coding RNAs, which can suppress or enhance the activity of many genes at once. Again, the researchers found a distinctive abnormal pattern in the autism disorder samples.

    Further studies may determine which abnormalities are drivers of autism, and which are merely the brain’s responses to the disease process. But the findings offer some intriguing leads about how the brains of people with autism develop during the first 10 years of their lives. One is that, in people with the disorder, genes that control the formation of synapses — the ports through which neurons send signals to each other — are abnormally quiet in key regions of the brain. During the same time frame, genes that promote the activity of microglial cells, the brain’s principal immune cells, are abnormally busy.

    This could mean that the first decade of life could be a critical time for interventions to prevent autism.

    The study also confirmed a previous finding that in the brains of people with autism, the patterns of gene activity in the frontal and temporal lobes are almost the same. In people who don’t have autism, the two regions develop distinctly different patterns during childhood. The new study suggests that SOX5, a gene with a known role in early brain development, contributes to the failure of the two regions to diverge in people with autism.

    The study’s lead authors are Neelroop Parikshak, Vivek Swarup and Grant Belgard of UCLA; other co-authors are Gokul Ramaswami, Michael Gandal, Christopher Hartl, Virpi Leppa, Luis de la Torre Ubieta, Jerry Huang, Jennifer Lowe and Steve Horvath of UCLA; Manuel Irimia of the Barcelona Institute of Science and Technology; and Benjamin Blencowe of the University of Toronto.

    The research was funded in part by the National Institutes of Health.

    See the full article here .

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    UC LA Campus

    For nearly 100 years, UCLA has been a pioneer, persevering through impossibility, turning the futile into the attainable.

    We doubt the critics, reject the status quo and see opportunity in dissatisfaction. Our campus, faculty and students are driven by optimism. It is not naïve; it is essential. And it has fueled every accomplishment, allowing us to redefine what’s possible, time after time.

    This can-do perspective has brought us 12 Nobel Prizes, 12 Rhodes Scholarships, more NCAA titles than any university and more Olympic medals than most nations. Our faculty and alumni helped create the Internet and pioneered reverse osmosis. And more than 100 companies have been created based on technology developed at UCLA.

     
  • richardmitnick 5:20 am on September 1, 2016 Permalink | Reply
    Tags: , Autism, , microRNAs,   

    From UCLA: “UCLA study links autism to changes in micro-RNAs” 

    UCLA bloc

    UCLA

    August 31, 2016
    Jim Schnabel

    In an important new study, scientists at UCLA have found that the brains of people with autism spectrum disorders show distinctive changes in the levels of tiny regulator molecules known as microRNAs, which control the activities of large gene networks.

    The study is the first to demonstrate the broad importance of microRNAs in autism disorders. The researchers found evidence that the individual microRNAs implicated in the study regulate many genes previously linked to autism.

    The study thus brings researchers closer to understanding the causes of autism disorders, and in particular why the activities of so many genes are abnormal in these disorders. In principle, microRNAs or related molecules could someday be targeted with drugs to treat or prevent autism.

    “These findings add a new layer to our understanding of the molecular changes that occur in the brains of patients with autism spectrum disorders, and give us a good framework for more detailed investigations of microRNAs’ contributions to these disorders,” said Dr. Daniel Geschwind, principal investigator and the Gordon and Virginia MacDonald Distinguished Professor of Human Genetics in the David Geffen School of Medicine at UCLA.

    The new research, published online in Nature Neuroscience, is by far the most comprehensive autism-related study of microRNAs, small molecules made of single-stranded RNA (ribonucleic acid), DNA’s more primitive cousin. Almost nothing was known about microRNAs before 2001, but researchers have since determined that hundreds of different microRNAs exist in human cells, and collectively regulate the activity of most of our genes.

    Because a typical microRNA reduces the activities of dozens to hundreds of genes, too much or too little of that microRNA can disrupt the normal workings of many cellular processes at once. Unsurprisingly, microRNA abnormalities have already been linked to a variety of disorders, including Alzheimer’s and cancers.

    “Autism is in a sense a good place to look for microRNA abnormalities, because prior studies from our laboratory and others have linked autism disorders to changes in the expression levels of a large number of genes,” said Geschwind, who is also a professor of neurology and psychiatry.

    For the study, Geschwind and colleagues measured levels of nearly 700 microRNAs in samples of brain tissue taken during autopsies of 55 people with autism spectrum disorders, and 42 control subjects without autism disorders. The analysis focused on samples from the cortex, which in most of the autism spectrum disorder cases showed a distinctive “signature” of abnormalities, involving 58 microRNAs — 17 with lower than normal levels and 41 with higher than normal levels.

    Looking at groupings or “modules” of microRNAs that seem to work together in cells, the team found another autism spectrum disorder signature: two distinct modules whose microRNAs were at abnormally high levels in the autism spectrum disorder samples, and one whose microRNAs were at abnormally low levels.

    The affected microRNAs are thought collectively to regulate hundreds of different genes. Among them, the scientists found a disproportionately large number that are already considered “autism risk” genes — typically because mutations or uncommon variants of those genes have been linked to autism spectrum disorders. The genes thought to be regulated by the autism-linked microRNAs also include many whose activity is known to be abnormal in autism, even when there is no obvious autism-risk mutation. Geschwind’s team selected several of the most strongly ASD-linked microRNAs, and confirmed with experiments in cultured brain cells that altering their levels — in the direction seen in the autism spectrum disorder samples — caused the kinds of changes in gene activity that were also seen in these samples.

    “From all this it seems likely that abnormalities in the levels of these microRNAs contribute to the broad gene expression changes we see in the brain in autism,” said Emily Wu, a postdoctoral scholar in the Geschwind Laboratory who was first author of the study and performed most of the experiments.

    The study employed advanced RNA sequencing techniques and was thorough enough to uncover, and link to the autism disorder cases, several microRNAs that had never been described before. One of them, hsa_can_1002-m, turned out to be specific for primates and thus couldn’t have been detected in mouse studies.

    The team plans to follow up by studying these ASD-linked microRNAs in more detail, to better characterize the effects of their altered levels on gene activity, brain development, cognition and behavior. “It would be interesting to test whether manipulating the levels of these microRNAs in animal models of autism can reverse autism-related signs,” Wu said.

    Any clinical payoff from the new research is many years away at best. But success in targeting microRNAs in animal model studies might eventually lead to the development of autism spectrum disorder treatments or even preventive measures. Autism spectrum disorders currently affect about one in 40 boys and one in 200 girls in the United States, and there are no specific therapies.

    The other authors of the study were Neelroop Parikshak, and Grant Belgard, both of UCLA at the time of the study.

    Funding was provided by the US National Institutes of Health (grant R01MH094714).

    See the full article here .

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    UC LA Campus

    For nearly 100 years, UCLA has been a pioneer, persevering through impossibility, turning the futile into the attainable.

    We doubt the critics, reject the status quo and see opportunity in dissatisfaction. Our campus, faculty and students are driven by optimism. It is not naïve; it is essential. And it has fueled every accomplishment, allowing us to redefine what’s possible, time after time.

    This can-do perspective has brought us 12 Nobel Prizes, 12 Rhodes Scholarships, more NCAA titles than any university and more Olympic medals than most nations. Our faculty and alumni helped create the Internet and pioneered reverse osmosis. And more than 100 companies have been created based on technology developed at UCLA.

     
  • richardmitnick 7:58 am on August 13, 2016 Permalink | Reply
    Tags: , Autism, , OCD and Attention Deficit May Share Brain Markers,   

    From SA: “Autism, OCD and Attention Deficit May Share Brain Markers” 

    Scientific American

    Scientific American

    August 9, 2016
    Ann Griswold

    1
    The researchers could distinguish “autism” from “not autism” (control) in 33 of 34 study participants, by using computerized analysis of brain scans showing activity in response to social words such as “hug.” https://www.autismspeaks.org

    Autism shares genetic roots with obsessive-compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD). The three conditions have features in common, such as impulsivity. New findings suggest that they also share a brain signature.

    The first comparison of brain architecture across these conditions has found that all are associated with disruptions in the structure of the corpus callosum. The corpus callosum is a bundle of nerve fibers that links the brain’s left and right hemispheres. The results appeared July 1 in the American Journal of Psychiatry.

    Clinicians may find it difficult to distinguish autism from ADHD based on symptoms alone. But if the conditions are marked by similar structural problems in the brain, the same interventions might be useful no matter what the diagnosis is, says lead researcher Stephanie Ameis, assistant professor of psychiatry at the University of Toronto.

    The unique aspects of each condition might arise from other brain attributes, such as differences in the connections between neurons, says Thomas Frazier, director of research at the Cleveland Clinic Foundation. “A reasonable conclusion is that autism and ADHD don’t differ dramatically in a structural way, but could differ in connectivity,” says Frazier, who was not involved in the study.

    Broken links:

    Ameis’ team examined the brains of 71 children with autism, 31 with ADHD, 36 with OCD and 62 typical children using diffusion tensor imaging. This method provides a picture of the brain’s white matter, the long fibers that connect nerve cells, by measuring the diffusion of water across these fibers.

    The researchers saw widespread disruptions in white matter structure among children with any of the three conditions. They found fewer alterations in the children with OCD than in those with autism or ADHD, however.

    This finding may relate to the early onset of autism and ADHD. Localized white matter disruptions may produce problems associated with OCD later in childhood, Ameis says.

    Parents also assessed their children’s attention and social communication skills, obsessive behaviors and ability to perform everyday tasks. Children who showed the least independence on daily tasks have the most significant disruptions in white matter. The researchers found no connection between brain structure and the other behaviors.

    “There is an association between what your brain looks like, in terms of its impairment, and how impaired you are in everyday life,” says Ameis.

    Tracing tracts:

    The researchers also looked for problems in particular white matter tracts. The only tract that looks alike in all three groups is the corpus callosum, suggesting that disruptions of this tract may underlie the features the conditions have in common.

    “What’s interesting is that [the corpus callosum] is one of the first tracts to develop and it’s the largest in the brain. So it could be a tract that creates vulnerability for these neurodevelopmental conditions,” Ameis says.

    The findings are preliminary, however. The researchers detected changes in only a small section of the corpus callosum, so it isn’t clear whether the aberrations they saw are clinically meaningful, says Ruth Carper, assistant research professor of neurosciences at the University of California, San Diego, who was not involved in the study.

    It’s also possible that the differences among the three groups stem from movement in the scanner, a common problem when scanning children with these conditions, Carper says.

    Still, researchers say the findings are an initial step toward teasing out the similarities and differences between the three conditions.

    Never mind statistics: Adults with autism may be happy
    Going gluten-free unlikely to help most people with autism
    New study bolsters theory that autism genes work in networks
    Neurons from boys with autism grow unusually fast

    See the full article here .

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    Scientific American, the oldest continuously published magazine in the U.S., has been bringing its readers unique insights about developments in science and technology for more than 160 years.

     
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